Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling

Pânzaru, Monica; Florea, Andreea; Caba, Lavinia; Gorduza, Eusebiu Vlad

doi:10.12998/wjcc.v11.i12.2604

Cited by 9 publications

(5 citation statements)

References 139 publications

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“…Считается, что 90% больных НО имеют генетический дефект, приводящий к количественным и качественным (иногда обоим) аномалиям в молекулах коллагена типа I. Аутосомно-рецессивным типом наследования передаются мутации в генах, обеспечиваю щих сборку молекул коллагена: LEPRE1 -пролил-3-гидроксилаза-1, CRTAPбелок, ассоциированный с хрящом, PPIB -пептидилпролил-цис-трансизомераза B. Данные мутации вызывают наиболее тяжелые или летальные формы НО. Также возможны дефекты минерализации костной ткани (гены IFITM5 -интерферониндуцированный трансмембранный белок-5, SERPINF1 -ингибирование пептидазы серпина, ветви F, элемента 1) и дифференцировки остеобластов (SP7 -фактор транскрипции SP7, WNT1 -протоонкоген WNT1, CREB3L1 -циклический АМФ-чувствительный элементсвязываю щий белок 3, подобный белку 1) [19][20][21][22].…”

Section: несовершенный остеогенезunclassified

Hereditary human diseases with skeletal pathology – molecular pathogenesis and clinical characteristics

Valeeva,

Khusainova,

Khusainova

et al. 2024

Medicinskij sovet

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Differential diagnosis of hereditary diseases is challenging due to similar clinical manifestations, diversity of nosologies, wide clinical variability and genetic heterogeneity, severity, rare frequency and complex molecular etiology. In some of them, connective tissue as a whole is involved in the pathological process, affecting almost all organs and systems of the human body, and in particular bone tissue, disrupting its remodeling and microarchitecture. The defect can occur at any of the stages of remodeling: during the initiation process, during bone resorption, osteoblast differentiation, osteoid mineralization, etc. Violation of the microarchitecture of bone tissue is accompanied by the development of low-traumatic fractures and deformities, early osteoarthritis, the formation of contractures and chronic pain syndrome. Genetic studies of patients have expanded knowledge about the molecular signaling pathways that coordinate bone development and metabolism, the nature of disease inheritance, clinical features, and specific bone biomarkers. This article provides an overview of key cellular mechanisms, features of diagnosis and treatment of hereditary human diseases that affect the condition of bone tissue and skeleton: osteogenesis imperfecta, EhlersDanlos syndrome, Marfan syndrome, juvenile osteoporosis, hypophosphatasia, osteopetrosis, progressive diaphyseal dysplasia, mucopolysaccharidoses, achondroplasia, multiple hereditary exostoses. Doctors of different specialties can encounter these diseases, and making a correct diagnosis will make it possible to determine the correct algorithm for patient management and begin timely treatment, the ability to prevent the development of severe complications, improve the quality of life of patients, restore maximum working capacity and reduce the percentage of disability.

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Section: несовершенный остеогенезunclassified

Hereditary human diseases with skeletal pathology – molecular pathogenesis and clinical characteristics

Valeeva,

Khusainova,

Khusainova

et al. 2024

Medicinskij sovet

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“…OI is also called "brittle bone disease", caused by the fact that the bone tissue is marked by changes in trabecular architecture, thin cortex, hypermineralized matrix and high bone turnover. Patients with OI have variable phenotypes such as prenatal fractures and lethal pre-and perinatal outcomes as well as mild forms with few fractures and normal height (Jovanovic M et al, 2022) (Panzaru MC et al, 2023).…”

Section: Introductionmentioning

confidence: 99%

Osteogenesis Imperfecta: literature review

De Oliveira,

De Andrade

2024

Braz. J. Hea. Rev.

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Osteogenesis imperfecta (OI) is a rare skeletal dysplasia with an incidence of 1/15,000 to 20,000. OI is characterized by bone fragility, bone deformities, frequent fractures, and stunted growth. As a result of impaired type I collagen production in several tissues, those with OI may suffer from brittle teeth, hearing loss, blue sclera, diminished respiratory function, and valve regurgitation. The severity of this condition can range from mild to extremely severe.

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“…Different types of OI classifications are used, but the most common types are based on clinical and radiological characteristics (Sillence classification), metabolic pathway and gene involvement [3].…”

Section: Introductionmentioning

confidence: 99%

“…Subsequently OI type V (with calcification in the intraosseous membranes) was introduced. Genetic classification is based on gene mutations, and, currently, XXII OI types are described [3]. In most cases, OI is correlated with a heterozygous mutation in the COL1A1 or COL1A2 genes.…”

Section: Introductionmentioning

confidence: 99%

Cavitating Lesions around the Cochlea Can Affect Audiometric Threshold and Clinical Practice

Zambonini,

Ghiselli,

Di Trapani

et al. 2023

Audiology Research

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There are several pathologies that can change the anatomy of the otic capsule and that can distort the bone density of the bony structures of the inner ear, but otosclerosis is one of the most frequent. Similar behavior has been shown in patients affected by osteogenesis imperfecta (OI), a genetic disorder due to a mutation in the genes coding for type I (pro) collagen. In particular, we note that otosclerosis and OI can lead to bone resorption creating pericochlear cavitations in contact with the internal auditory canal (IAC). In this regard, we have collected five cases presenting this characteristic; their audiological data and clinical history were analyzed. This feature can be defined as a potential cause of a third-window effect, because it causes an energy loss during the transmission of sound waves from the oval window (OW) away from the basilar membrane.

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Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling

Cited by 9 publications

References 139 publications

Hereditary human diseases with skeletal pathology – molecular pathogenesis and clinical characteristics

Hereditary human diseases with skeletal pathology – molecular pathogenesis and clinical characteristics

Osteogenesis Imperfecta: literature review

Cavitating Lesions around the Cochlea Can Affect Audiometric Threshold and Clinical Practice

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